1. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype. (May 2018) Authors: Iapadre, Giulia; Morana, Giovanni; Vari, Maria Stella; Pinto, Francesca; Lanteri, Paola; Tessa, Alessandra; Santorelli, Filippo Maria; Striano, Pasquale; Verrotti, Alberto Journal: European journal of paediatric neurology Issue: Volume 22:Number 3(2018:May) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel Xp22.13 microdeletion in Nance‐Horan syndrome. Issue 11 (2nd May 2017) Authors: Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria Journal: Birth defects research Issue: Volume 109:Issue 11(2017) Page Start: 866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy. (April 2018) Authors: Stella Vari, Maria; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Striano, Pasquale; Minetti, Carlo; Zara, Federico Journal: Seizure Issue: Volume 57(2018) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy. (August 2017) Authors: Vari, Maria Stella; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Minetti, Carlo; Striano, Pasquale; Zara, Federico Journal: Seizure Issue: Volume 50(2017) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. (November 2014) Authors: De Grandis, Elisa; Mancardi, Maria Margherita; Carelli, Valentina; Carpaneto, Manuela; Morana, Giovanni; Prato, Giulia; Mirabelli-Badenier, Marisol; Pinto, Francesca; Veneselli, Edvige; Baglietto, Maria Giuseppina Journal: Journal of child neurology Issue: Volume 29:Number 11(2014:Nov.) Page Start: 1479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Erratum to "De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy" [Seizure 57 (2018) 63–65]. (April 2018) Authors: Vari, Maria Stella; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Striano, Pasquale; Minetti, Carlo; Zara, Federico Journal: Seizure Issue: Volume 57(2018) Page Start: R1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome). (November 2018) Authors: Tambasco, Nicola; Paoletti, Federico Paolini; Prato, Giulia; Mancardi, Maria Margherita; Prontera, Paolo; Giordano, Lucio; Grosso, Salvatore; Romeo, Antonino; Pinto, Francesca; Savasta, Salvatore; Peruzzi, Cinzia; Romoli, Michele; Striano, Pasquale; Verrotti, Alberto; Belcastro, Vincenzo Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 1081 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. (October 2017) Authors: Accogli, Andrea; Iacomino, Michele; Pinto, Francesca; Orsini, Alessandro; Vari, Maria Stella; Selmi, Raed; Torella, Annalaura; Nigro, Vincenzo; Minetti, Carlo; Severino, Mariasavina; Striano, Pasquale; Capra, Valeria; Zara, Federico Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Preliminary assessment of the feasibility of using AB words to assess candidacy in adults. (1st April 2016) Authors: Vickers, Deborah A.; Riley, Alison; Ricaud, Rebecca; Verschuur, Carl; Cooper, Stacey; Nunn, Terry; Webb, Kath; Muff, Joanne; Harris, Frances; Chung, Mark; Humphries, Jane; Langshaw, Alison; Poynter-Smith, Emma; Totten, Catherine; Tapper, Lynne; Ridgwell, Jillian; Mawman, Deborah; de Estibariz, Un... Journal: Cochlear implants international Issue: Volume 17(2016)Supplement 1 Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗